Neonatal presentation of Joubert syndrome


  • Rahul Choudhary Department of Paediatrics, NDMC Medical College and Hindu Rao Hospital, Delhi, India
  • Garima Sachdeva Department of Obstetrics and Gynaecology, NDMC Medical College and Hindu Rao Hospital, Delhi, India
  • Gaurav Katoch Department of Paediatrics, Department of Internal Medicine, NDMC Medical College and Hindu Rao Hospital, Delhi, India
  • Sanjeev Choudhary Department of Internal Medicine, NDMC Medical College and Hindu Rao Hospital, Delhi, India



Joubert syndrome, Magnetic resonance imaging, Nystagmus, Prenatal diagnosis, Ultrasound


Joubert syndrome is a rare genetic disorder with autosomal recessive or rarely X-linked recessive inheritance. Authors are reporting a case of a newborn girl with Joubert syndrome who presented with respiratory distress, hypotonia, hyporeflexia, abnormal eye movements, and facial dysmorphism. Brain MRI revealed vermian hypoplasia, “molar tooth sign” with “bat wing appearance” of the fourth ventricle, deepened interpeduncular fossa, and elongated superior cerebellar peduncles. The clinical diagnosis of this syndrome is difficult due to its variable presentation and non-specific presentation. Magnetic Resonance Imaging (MRI) has an important role in the diagnosis of Joubert syndrome. This not only helps in early diagnosis but also helps in appropriate counseling and proper rehabilitation of the baby.


Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Gene. 1992 Jul 1;43(4):726-31.

Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. J Child Neurol. 1999 Sep;14(9):554-64.

Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Dec;5(1):20.

Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Eur J Human Gene. 2007 May;15(5):511.

Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet. 2009;151(4):326-40.

Braddock SR, Henley KM, Maria BL. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am J Med Genet Part A. 2007 Dec 15;143(24):3235-42.

Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, et al. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Human Gene. 2003 Sep 1;73(3):663-70.

Quarello E, Molho M, Garel C, Couture A, Legac MP, Moutard ML, et al. Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders. Ultrasound Obstetr Gynecol. 2014 Feb;43(2):227-32.

Reddy UM, Filly RA, Copel JA, Pregnancy, Perinatology Branch EKSNIoCH, Human Development DoH, Human Services NIH Prenatal imaging: ultrasonography and magnetic resonance imaging. Obstet Gynecol. 2008;112(1):145-57.

Saleem SN, Zaki MS, Soliman NA, Momtaz M. Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders. Neuropediatr. 2011 Feb;42(01):35-8.

Doherty D. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Seminars Pediatr Neurol. 2009 Sep 1;16(3):143-54.

Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, et al. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Human Mutat. 2009 Feb;30(2):E432-42.

Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO. Eye movement abnormalities in Joubert syndrome. Invest Ophthalmol Visual Sci. 2009 Oct 1;50(10):4669-77.

Németh AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, etal. Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia-Like Syndrome) Is Linked to Chromosome 9q34. Am J Human Gene. 2000 Nov 1;67(5):1320-6.

Bulgheroni S, D'arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, et al. Cognitive, adaptive, and behavioral features in Joubert syndrome. Am J Medi Gene Part A. 2016 Dec;170(12):3115-24.






Case Reports